BMS1 BMS1 ribosome biogenesis factor
Gene ID: 9790, updated on 2-Nov-2024Gene type: protein coding
Also known as: ACC; BMS1L
- See all available tests in GTR for this gene
- Go to complete Gene record for BMS1
- Go to Variation Viewer for BMS1 variants
Summary
This gene likely encodes a ribosome assembly protein. A similar protein in yeast functions in 35S-rRNA processing, which includes a series of cleavage steps critical for formation of 40S ribosomes. Related pseudogenes exist on chromosomes 2, 9, 10, 15, 16, and 22.[provided by RefSeq, Mar 2009]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Aplasia cutis congenita | See labs |
| Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy. GeneReviews: Not available |
Genomic context
- Location:
- 10q11.21
- Sequence:
- Chromosome: 10; NC_000010.11 (42782795..42834937)
- Total number of exons:
- 23
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for BMS1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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